Roca Neus, Muñoz Marina, Cruz Alejandro, Vilalta Ramon, Lara Enrique, Ariceta Gema
Pediatric Nephrology, Consorci Hospitalari de Vic Ringgold Standard Institution, Francesc Pla el Vigata n°1, Vic, Spain.
Pediatric Nephrology, Hospital Vall d'Hebron Ringgold Standard Institution, Barcelona, Catalunya, Spain.
Clin Kidney J. 2019 Mar 16;12(6):836-839. doi: 10.1093/ckj/sfz022. eCollection 2019 Dec.
Denys-Drash syndrome (DDS) is a rare disease caused by mutations in exons 8 and 9 of the gene. It is characterized by the association of early onset steroid-resistant nephrotic syndrome (SRNS), Wilms' tumour and, in some patients, intersex disorders, with increasing risk of gonadoblastoma. There are few published data concerning the long-term outcome of patients with DDS. The aim of this study was to report our experience.
Data were collected from five children (three boys) with confirmed DDS diagnosed from 1996 to 2017. The mean follow-up of these patients was 16 years.
The patients presented with SRNS and diffuse mesangial sclerosis at renal biopsy. All patients were hypertensive and progressed to end-stage kidney disease, initiating dialysis at a mean age of 28 months. Three patients developed Wilms' tumour 9 months after the SRNS was identified, which was treated by nephrectomy and chemotherapy. All five patients received kidney transplantation. SRNS did not recur after transplantation in any of the patients and graft survival was similar to that of other kidney transplant recipients in our programme. All three boys had ambiguous genitalia and cryptorchidism but a confirmed male karyotype (46, XY). One girl presented with gonadal agenesis, whereas the other one had normal female ovarian tissue and external genitalia. Both girls had a female karyotype (46, XX). Gonadoblastoma was not observed at any case.
Early DDS recognition in patients with SRNS is crucial due to its low prevalence, the specific treatment approach required and early detection of Wilms' tumour. Few data are available regarding long-term outcomes.
迪尼-德拉斯综合征（DDS）是一种由该基因第8和9外显子突变引起的罕见疾病。其特征为早发性类固醇抵抗性肾病综合征（SRNS）、威尔姆斯瘤，部分患者还伴有两性畸形，患性腺母细胞瘤的风险增加。关于DDS患者长期预后的已发表数据较少。本研究的目的是报告我们的经验。
收集了1996年至2017年确诊为DDS的5名儿童（3名男孩）的数据。这些患者的平均随访时间为16年。
患者肾活检显示为SRNS和弥漫性系膜硬化。所有患者均患有高血压，并进展为终末期肾病，平均在28个月龄时开始透析。3例患者在确诊SRNS后9个月发生威尔姆斯瘤，接受了肾切除术和化疗。所有5例患者均接受了肾移植。移植后，所有患者的SRNS均未复发，移植肾存活率与我们项目中其他肾移植受者相似。3名男孩均有生殖器模糊和隐睾，但核型确诊为男性（46,XY）。1名女孩表现为性腺发育不全，另1名女孩有正常的女性卵巢组织和外生殖器。两名女孩的核型均为女性（46,XX）。所有病例均未观察到性腺母细胞瘤。
由于SRNS患者中DDS的患病率较低、需要特定的治疗方法以及早期发现威尔姆斯瘤，因此早期识别DDS至关重要。关于长期预后的数据很少。
